Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs72645331
rs72645331
1.000 0.120 17 50196661 missense variant C/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.800 1.000 12 1988 2014
dbSNP: rs72645341
rs72645341
1.000 0.120 17 50196525 stop gained C/A;T snv 2.0E-05 1.4E-05
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.800 1.000 12 1988 2014
dbSNP: rs72645362
rs72645362
1.000 0.120 17 50195934 missense variant C/A;T snv 2.4E-05
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.710 1.000 12 1988 2014
dbSNP: rs72645323
rs72645323
0.925 0.120 17 50197027 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 1.000 12 1988 2014
dbSNP: rs72645324
rs72645324
1.000 0.120 17 50197026 missense variant C/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 1.000 12 1988 2014
dbSNP: rs72645325
rs72645325
1.000 0.120 17 50197017 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 1.000 12 1988 2014
dbSNP: rs72645340
rs72645340
1.000 0.120 17 50196528 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 1.000 12 1988 2014
dbSNP: rs72645353
rs72645353
1.000 0.120 17 50196198 missense variant C/A;T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 1.000 12 1988 2014
dbSNP: rs72648359
rs72648359
1.000 0.120 17 50194134 missense variant G/C snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 1.000 12 1988 2014
dbSNP: rs72651627
rs72651627
1.000 0.120 17 50192519 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 1.000 12 1988 2014
dbSNP: rs72651647
rs72651647
0.925 0.120 17 50191454 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 1.000 12 1988 2014
dbSNP: rs72656323
rs72656323
1.000 0.120 17 50187076 missense variant C/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 1.000 12 1988 2014
dbSNP: rs72656334
rs72656334
1.000 0.120 17 50186871 missense variant C/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 1.000 12 1988 2014
dbSNP: rs72656339
rs72656339
1.000 0.120 17 50186797 missense variant A/C snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 1.000 12 1988 2014
dbSNP: rs72658193
rs72658193
0.925 0.120 7 94423056 missense variant G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 1.000 5 1991 2006
dbSNP: rs72656378
rs72656378
1.000 0.120 7 94407884 missense variant G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 0
dbSNP: rs72656393
rs72656393
1.000 0.120 7 94409741 missense variant G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 0
dbSNP: rs72658172
rs72658172
1.000 0.120 7 94420550 missense variant G/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 0
dbSNP: rs72658173
rs72658173
1.000 0.120 7 94420559 missense variant G/T snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 0
dbSNP: rs72659342
rs72659342
1.000 0.120 7 94428350 missense variant G/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 0
dbSNP: rs72667024
rs72667024
1.000 0.120 17 50198169 missense variant C/G snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 0
dbSNP: rs72667037
rs72667037
1.000 0.120 17 50197767 missense variant C/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 0
dbSNP: rs72667038
rs72667038
1.000 0.120 17 50197758 missense variant C/A snv
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
0.700 0